Literature DB >> 27164647

Teaching NeuroImages: Biotin-responsive basal ganglia disease.

Julian Schwarting1, Rahul Lakshmanan2, Indran Davagnanam2.   

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Year:  2016        PMID： 27164647      PMCID： PMC4844240          DOI： 10.1212/WNL.0000000000002616

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.

Authors:  Brahim Tabarki; Majid Alfadhel; Saad AlShahwan; Khaled Hundallah; Shatha AlShafi; Amel AlHashem
Journal:  Eur J Paediatr Neurol       Date:  2015-06-12       Impact factor: 3.140

2.  Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Authors:  Brahim Tabarki; Shatha Al-Shafi; Saad Al-Shahwan; Zeeshan Azmat; Amel Al-Hashem; Nawal Al-Adwani; Nabil Biary; Mohamed Al-Zawahmah; Sonia Khan; Giulio Zuccoli
Journal:  Neurology       Date:  2012-12-26       Impact factor: 9.910
  2 in total
  2 in total

1.  Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Authors:  Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia
Journal:  J Pediatr Genet       Date:  2018-12-18

Review 2.  Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Authors:  Jiaping Wang; Junling Wang; Xiaodi Han; Zhimei Liu; Yanli Ma; Guohong Chen; Haoya Zhang; Dan Sun; Ruifeng Xu; Yi Liu; Yuqin Zhang; Yongxin Wen; Xinhua Bao; Qian Chen; Fang Fang
Journal:  Front Genet       Date:  2021-07-01       Impact factor: 4.599
  2 in total

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